Pompe DiseaseNCT00113035
Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease
An observational study of Pompe Disease, run by Genzyme, a Sanofi Company at 5 sites in United States.
Trial summary
Pompe disease (also known as glycogen storage disease type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. Read more about this study
- Who is it for?
- Ages 8 years and older
- Conditions the study is for
- Pompe Disease
- How many people
- 60 participants
- Where
- 5 sitesUnited States
- Study dates
- May 2005to Oct 2005
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 8 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Must provide written informed consent prior to any study-related procedures being performed
- Clinical presentation consistent with late-onset Pompe disease, or a current clinical diagnosis of late-onset Pompe disease
- Must be greater than or equal to 8 years of age
- Must be able to ambulate (use of assistive devices, such as a walker, cane or crutches, is permitted)
Who cannot join
- Requires the use of invasive ventilatory support
- Requires the use of noninvasive ventilatory support while awake and in an upright position
- Use of any investigational product within 30 days prior to study enrollment
- Unwillingness to comply with protocol requirements
- Has clinically significant organic disease, unstable medical condition, serious or intercurrent illness
- Is pregnant or lactating
- Has participated in the Prospective Observational Study in Patients with Late-Onset Pompe Disease (AGLU02303, "LOPOS")
Trial locations and contacts
5 sites in 1 country.
5 sites in 1 country
United States5 sites
Tower Hematology/Oncology Medical Group
Beverly Hills, California, 90211
Mount Sinai School of Medicine
New York, New York, 10029
University of Pittsburgh Medical Center
Pittsburgh, Pennsylvania, 15213
Washington University Medical Center
St Louis, Missouri, 63110
Children's National Medical Center
Washington D.C., District of Columbia, 20010
About this study
Official title: Screening Protocol to Evaluate Acid Alpha Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease for Potential Inclusion in Future Clinical Studies With Myozyme (Alglucosidase Alfa)
Pompe disease (also known as glycogen storage disease type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The primary objective of this study is to identify potential candidates for future clinical studies in Pompe disease.
- Conditions
- Pompe Disease
- Keywords
- Glycogen Storage Disease Type II, GSD-II, Pompe Disease, Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency, Glycogenosis 2
- Medical subject headings
- Glycogen Storage Disease Type II
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients with late onset Pompe Disease | Not described |
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Jun 2005 (estimated)
- Study startMay 2005
- Study completionOct 2005
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pompe DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Time perspective
- Prospective
- Enrolment
- 60 participants
Sponsor and investigators
- Lead sponsor
- Genzyme, a Sanofi Company
- Sponsor type
- Industry (pharma, biotech, devices)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00113035
- Sponsor's protocol ID
- AGLU02905
- Status last verified
- May 2015
- First submitted
- 3 Jun 2005
- Last updated
- 5 May 2015
- Results posted
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 May 2015. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Screening Protocol to Evaluate Acid Alpha Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease for Potential Inclusion in Future Clinical Studies With Myozyme (Alglucosidase Alfa)
- ClinicalTrials.gov ID
- NCT00113035
- Acronym / sponsor ID
- AGLU02905
- Conditions
- Pompe Disease
- Keywords
- Glycogen Storage Disease Type II, GSD-II, Pompe Disease, Pompe Disease (Late-Onset), Glycogen Storage Disease Type II (GSD-II), Acid Maltase Deficiency, Glycogenosis 2
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 60 participants
- Lead sponsor
- Genzyme, a Sanofi CompanyIndustry (pharma, biotech, devices)
- Study start
- May 2005
- Study completion
- Oct 2005 (actual)
- First posted
- 6 Jun 2005 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Pompe disease (also known as glycogen storage disease type II) is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function. The primary objective of this study is to identify potential candidates for future clinical studies in Pompe disease.
Study design
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with late onset Pompe Disease | – | – |
Who may qualify
- Ages
- 8 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (4 listed)
- Must provide written informed consent prior to any study-related procedures being performed
- Clinical presentation consistent with late-onset Pompe disease, or a current clinical diagnosis of late-onset Pompe disease
- Must be greater than or equal to 8 years of age
- Must be able to ambulate (use of assistive devices, such as a walker, cane or crutches, is permitted)
Key exclusion criteria (7 listed)
- Requires the use of invasive ventilatory support
- Requires the use of noninvasive ventilatory support while awake and in an upright position
- Use of any investigational product within 30 days prior to study enrollment
- Unwillingness to comply with protocol requirements
- Has clinically significant organic disease, unstable medical condition, serious or intercurrent illness
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 May 2015.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
5 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pompe Disease, run by Genzyme, a Sanofi Company at 5 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 5 May 2015. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 5 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 May 2015.